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Related Concept Videos

Serum Studies: Renal Function Tests01:24

Serum Studies: Renal Function Tests

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Renal function tests are crucial for assessing kidney health, monitoring disease progression, and evaluating the kidneys' efficiency in waste elimination, fluid balance, and electrolyte regulation. These tests offer critical insights into kidney function, even though routine measurements may appear normal until there is a significant decline in the glomerular filtration rate or GFR. Typically, signs of kidney impairment only become evident when the GFR falls to about 50% of its normal level.
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Factors Affecting Renal Clearance: Renal Impairment01:17

Factors Affecting Renal Clearance: Renal Impairment

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Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
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Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

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Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
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Renal Drug Excretion: Tubular Secretion01:28

Renal Drug Excretion: Tubular Secretion

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Active tubular secretion is a robust, energy-demanding process that utilizes carrier systems to transport drugs into renal tubules. The active renal secretion systems include the organic anion transporter (OAT) for weak acids and the organic cation transporter (OCT) for weak bases. Structurally similar drugs can compete for the same transporter, potentially leading to drug accumulation and toxicity. However, this principle can be exploited therapeutically. One example is probenecid (Probalan),...
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Acute Kidney Injury IV: Diagnostic Studies and Prevention01:30

Acute Kidney Injury IV: Diagnostic Studies and Prevention

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Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
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Renal Drug Excretion: Glomerular Filtration01:02

Renal Drug Excretion: Glomerular Filtration

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The kidney serves as the primary organ responsible for eliminating drugs and their metabolites from the body. This process, known as renal elimination, starts with glomerular filtration and results in urine formation. Each kidney houses millions of functional units called nephrons, where urine production occurs. A nephron has two main components: a renal corpuscle and a renal tubule.
Drugs gain access to the kidney via the renal artery, which progressively branches off into afferent arterioles....
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The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
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Genomic testing in patients with renal disease.

Katya Lyulcheva-Bennett1, Simon Williams2, Matthew Howse2

  • 1Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.

British Journal of Hospital Medicine (London, England : 2005)
|July 25, 2023
PubMed
Summary

Genetic testing for inherited kidney disease offers tailored care but remains underutilized. Integrating genomic medicine into renal care pathways can improve patient outcomes by addressing current barriers.

Keywords:
Genetic testingGenomicsKidney diseasesNephrology

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Area of Science:

  • Nephrology
  • Genetics
  • Genomic Medicine

Background:

  • Inherited kidney diseases contribute significantly to chronic kidney disease and end-stage renal failure.
  • Genetic testing offers tailored care for patients and families with inherited kidney disease.
  • Despite availability, genetic testing uptake in renal patients is low.

Purpose of the Study:

  • To introduce genetic and genomic testing concepts to renal physicians.
  • To address barriers hindering genetic testing integration in routine renal care.
  • To promote wider adoption of genomic medicine for improved patient outcomes.

Main Methods:

  • Review of current evidence on genetic testing in inherited kidney disease.
  • Discussion of key genetic and genomic testing principles.
  • Identification and analysis of barriers to clinical integration.

Main Results:

  • Genetic testing is crucial for personalized management of inherited kidney diseases.
  • Significant barriers impede the routine use of genetic testing in nephrology.
  • Genomic medicine advancements offer potential for better patient outcomes.

Conclusions:

  • Integrating genetic testing into clinical practice is essential for inherited kidney disease management.
  • Overcoming barriers is key to leveraging genomic medicine in nephrology.
  • Early genetic investigation can optimize patient and family care pathways.